Results 31 to 40 of about 483,969 (264)

Imaging of High‐Risk Neuroblastoma: Recommendations From SIOPEN Radiology and Nuclear Medicine Specialty Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Neuroblastoma is the most common extracranial solid tumor in early childhood. Its clinical behavior is highly variable, ranging from spontaneous regression to fatal outcome despite intensive treatment. The International Society of Pediatric Oncology Europe Neuroblastoma Group (SIOPEN) Radiology and Nuclear Medicine Specialty Committees ...
Annemieke Littooij, Catia Olianti, Herve Brisse, Pier Luigi Di Paolo, Maria Garganese, Tejas Kapadia, Jurgen Schaefer, Hugh Wallace, Simon Wan, Bart de Keizer, Irmina Sefic Pasic, Julian Rogasch   +11 more
wiley   +1 more source

RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations

The Application of Clinical Genetics, 2022
Natana Chaves Rabelo,1– 3 Maria Eduarda Gomes,1– 3 Isabelle de Oliveira Moraes,1– 3 Juliana Cantagalli Pfisterer,1– 3 Guilherme Loss de Morais,4 Deborah Antunes,5 Ernesto Raúl Caffarena,6 Juan Llerena Jr,1,2,7,8 Sayonara Gonzalez1– 3 1Centro de Genética ...
Chaves Rabelo N, Gomes ME, de Oliveira Moraes I, Cantagalli Pfisterer J, Loss de Morais G, Antunes D, Caffarena ER, Llerena Jr J, Gonzalez S   +8 more
doaj  

Collagen cross-linking in thin corneas

Indian Journal of Ophthalmology, 2013
Collagen cross-linking (CXL) has become the standard of care for progressive keratoconus, after numerous clinical studies have established its efficacy and safety in suitably selected eyes. The standard protocol is applicable in eyes which have a minimum
Prema Padmanabhan, Abhishek Dave
doaj   +1 more source

Genetic heterogeneity in infantile spasms [PDF]

Epilepsy Research, 2019
Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS.
Muir A. M., Myers C. T., Nguyen N. T., Saykally J., Craiu D., De Jonghe P., Helbig I., Hoffman-Zacharska D., Guerrini R., Lehesjoki A. -E., Marini C., Moller R. S., Serratosa J., Sterbova K., Striano P., von Spiczak S., Weckhuysen S., Mefford H. C.   +17 more
openaire   +4 more sources

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

The Molecular Characterization of Genetic Abnormalities in Esophageal Squamous Cell Carcinoma May Foster the Development of Targeted Therapies

Current Oncology, 2023
Esophageal cancer is among the most common tumors in the world and is associated with poor outcomes, with a 5-year survival rate of about 10–20%. Two main histological subtypes are observed: esophageal squamous cell carcinoma (ESCC), more frequent among ...
Ugo Testa, Germana Castelli, Elvira Pelosi   +2 more
doaj   +1 more source

Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pediatric relapsed or refractory (R/R) solid tumors carry a dismal prognosis, and postrelapse patient experiences are not well described. We present postrelapse outcomes, including number of R/R events and subsequent therapy regimens.
Matthew T. McEvoy, Elizabeth L. Seashore, W. Susan Cheng, Shondra Clay, Jessica A. Casas, Jennifer H. Foster   +5 more
wiley   +1 more source

Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do

Journal of Multidisciplinary Healthcare, 2022
Lavinia Caba,1,* Laura Florea,2,* Elena Emanuela Braha,3,* Valeriu Vasile Lupu,4,* Eusebiu Vlad Gorduza1,* 1Department of Mother and Child Medicine – Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, Iaşi,
Caba L, Florea L, Braha EE, Lupu VV, Gorduza EV   +4 more
doaj  

Determination of ERG(+), EZH2, NKX3.1, and SPINK‐1 subtypes to evaluate their association with clonal origin and disease progression in multifocal prostate cancer

Cancer Reports, 2023
Background The prognostic relevance of prostate cancer (PCa) molecular subtypes remains controversial, given the presence of multiple foci with the possibility of different subtypes in the same patient. Aim To determine the clonal origin of heterogeneity
Yenifer Yamile Segura‐Moreno, María Carolina Sanabria‐Salas, Jorge Andrés Mesa‐López De Mesa, Rodolfo Varela‐Ramirez, Natalia Lizeth Acosta‐Vega, Martha Lucía Serrano   +5 more
doaj   +1 more source

Treatment Decision‐Making Roles and Preferences Among Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Decision‐making (DM) dynamics between adolescents and young adults (AYAs) with cancer, parents, and oncologists remain underexplored in diverse populations. We examined cancer treatment DM preferences among an ethnically and socioeconomically diverse group of AYAs and their parents.
Amanda M. Gutierrez, Jill O. Robinson, Wendy A. Allen‐Rhoades, Hadley S. Smith, Isabel Canfield, Rebecca L. Hsu, Sarah R. Scollon, Lauren R. Desrosiers‐Battu, Nicole M. Schneider, Frank Y. Lin, Donald Williams Parsons, Sharon E. Plon, Mary A. Majumder, Janet Malek, Amy L. McGuire   +14 more
wiley   +1 more source